Orphanet: Diagnosi molecolare postnatale dell_epilessia mioclonica severa dell_infanzia Sindrome di Dravet analisi del gene SCN1A mediante sequenziamento di esoni selezionati e MLPA
x

Search for a diagnostic test

* (*) mandatory field

Postnatal molecular diagnosis of severe myoclonic epilepsy of infancy - Dravet syndrome (sequence analysis of selected exons and MLPA of SCN1A gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 23/10/2015
  • Laboratorio di Neurogenetica
  • Clinica di Neurologia Pediatrica
  • Azienda Ospedaliera Universitaria Anna Meyer
  • Viale Pieraccini 24
  • 50139 FIRENZE
  • ITALY
  • Director of laboratory : Pr Renzo GUERRINI
  • More information
  • Phone : 39 055 5662844
  • Additional Phone : 39 055 5662573
  • Fax : 39 055 5662329
  • Website
Last update: October 2015

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
-
-
MLPA based techniques

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.